| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs1561875767 | 1.000 | 0.200 | 6 | 43041036 | stop gained | G/A | snv | 14 | |||
| rs201518227 | 1.000 | 1 | 179917914 | missense variant | C/T | snv | 3.2E-05 | 5.6E-05 | 13 | ||
| rs868064163 | 1.000 | 0.040 | 3 | 179586552 | missense variant | C/T | snv | 7.0E-06 | 13 | ||
| rs1553603732 | 1.000 | 0.160 | 2 | 219423784 | frameshift variant | CCCATCCAGACCTACTC/- | delins | 10 | |||
| rs72664223 | 1.000 | 0.160 | 16 | 16221763 | frameshift variant | T/- | del | 4.1E-06 | 9 | ||
| rs886041239 | 1.000 | 0.160 | 10 | 110593202 | missense variant | A/G | snv | 9 | |||
| rs914586984 | 1.000 | 0.120 | 17 | 63959275 | missense variant | G/C;T | snv | 9 | |||
| rs1057518939 | 1.000 | 0.040 | 8 | 99511424 | frameshift variant | A/- | del | 9 | |||
| rs1567705064 | 1.000 | 0.080 | 17 | 42907570 | frameshift variant | ATGGTCACATCTA/- | del | 8 | |||
| rs114303883 | 1.000 | 0.160 | 16 | 16182534 | stop gained | C/A;T | snv | 9.1E-05 | 4.2E-05 | 8 | |
| rs72653788 | 1.000 | 0.160 | 16 | 16178935 | missense variant | G/A | snv | 3.2E-05 | 5.6E-05 | 8 | |
| rs138008832 | 1.000 | 5 | 150123142 | missense variant | G/A;T | snv | 1.1E-04; 1.6E-05 | 8 | |||
| rs1554402092 | 1.000 | 7 | 44254555 | missense variant | C/T | snv | 8 | ||||
| rs757082154 | 1.000 | 0.120 | 2 | 178527491 | stop gained | G/A | snv | 1.2E-05 | 8 | ||
| rs201892814 | 1.000 | 0.040 | 15 | 42403721 | intron variant | C/G | snv | 3.1E-03; 2.4E-05 | 3.1E-03 | 8 | |
| rs1260978141 | 1.000 | 0.120 | 11 | 103125293 | stop gained | C/T | snv | 4.5E-06 | 8 | ||
| rs63751111 | 1.000 | 0.160 | 16 | 16154873 | missense variant | C/G;T | snv | 8.1E-06 | 7 | ||
| rs72653783 | 1.000 | 0.160 | 16 | 16182566 | missense variant | T/G | snv | 4.0E-06 | 7 | ||
| rs1445287184 | 1.000 | 0.120 | 12 | 80670365 | stop gained | C/T | snv | 3.2E-05 | 2.8E-05 | 7 | |
| rs1564062144 | 1.000 | 9 | 83972190 | splice acceptor variant | C/T | snv | 7 | ||||
| rs72664237 | 1.000 | 0.160 | 16 | 16154732 | frameshift variant | G/- | del | 2.8E-05 | 7 | ||
| rs1057518921 | 1.000 | X | 71132465 | missense variant | G/A | snv | 7 | ||||
| rs724159953 | 1.000 | 21 | 37505352 | stop gained | C/T | snv | 7 | ||||
| rs724159948 | 1.000 | 21 | 37490273 | stop gained | C/T | snv | 7 | ||||
| rs143003434 | 1.000 | 0.080 | 2 | 32098840 | missense variant | G/A | snv | 3.2E-05 | 3.5E-05 | 7 |